{"id":4401,"date":"2020-10-31T13:14:32","date_gmt":"2020-10-31T12:14:32","guid":{"rendered":"https:\/\/encore-expertisecentrum.nl\/?page_id=4401"},"modified":"2021-10-13T08:04:20","modified_gmt":"2021-10-13T06:04:20","slug":"cerebrale-overgroei-syndromen","status":"publish","type":"page","link":"https:\/\/encore-expertisecentrum.nl\/en\/publications\/cerebrale-overgroei-syndromen\/","title":{"rendered":"Brain overgrowth syndromes"},"content":{"rendered":"[vc_row][vc_column][vc_column_text]Mancini GMS, et.al. (2021) <strong>Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist. <\/strong><em>Eur J Paediatr Neurol. <\/em>35:27-34 <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/34592643\/\" target=\"_blank\" rel=\"noopener noreferrer\"><u>Pubmed<\/u><\/a><\/p>\n<p>Douzgou S, et.al. (2021) <strong>A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.<\/strong> Clin Genet. <span style=\"text-decoration: underline;\"><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/34240408\/\" target=\"_blank\" rel=\"noopener noreferrer\">Pubmed<\/a><\/span><\/p>\n<p>Besterman AD, et.al. (2021) <strong>Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity. <\/strong>PLoS Genet. 17(7):e1009651. <span style=\"text-decoration: underline;\"><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/34197453\/\" target=\"_blank\" rel=\"noopener noreferrer\">Pubmed<\/a><\/span><\/p>\n<p>Proietti Onori M, et.al. (2021) <strong>RHEB\/mTOR hyperactivity causes cortical malformations and epileptic seizures through increased axonal connectivity.<\/strong> PLoS Biol. 19(5):e3001279.\u00a0<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/34038402\/\" target=\"_blank\" rel=\"noopener noreferrer\"><span style=\"text-decoration: underline;\">Pubmed<\/span><\/a><\/p>\n<p>Reijnders M, <em>et.al. <\/em>(2017) <strong>Variation in a range of mTOR related genes associated with intracranial volume and intellectual disability. <\/strong><em>Nat Commun. <\/em>8(1); 1052. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/29051493\/\" target=\"_blank\" rel=\"noopener noreferrer\"><span style=\"text-decoration: underline;\">Pubmed<\/span><\/a>[\/vc_column_text][\/vc_column][\/vc_row]","protected":false},"excerpt":{"rendered":"<p>[vc_row][vc_column][vc_column_text]Mancini GMS, et.al. (2021) Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist. Eur J Paediatr Neurol. 35:27-34 Pubmed Douzgou S, et.al. (2021) A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement. Clin Genet. Pubmed Besterman AD, et.al. (2021) Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated [&hellip;]<\/p>","protected":false},"author":1,"featured_media":0,"parent":3957,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":[],"_links":{"self":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/4401"}],"collection":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/comments?post=4401"}],"version-history":[{"count":8,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/4401\/revisions"}],"predecessor-version":[{"id":4940,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/4401\/revisions\/4940"}],"up":[{"embeddable":true,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/3957"}],"wp:attachment":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/media?parent=4401"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}